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GENATLAS PHENOTYPE
last update : 09-06-2010
Symbol UCMD1
Location 21q22.3
Name Ullrich congenital muscular dystrophy 1
Other name(s)
  • muscular dystrophy scleroatonic
  • Ullrich disease
    • Corresponding gene COL6A2
    Main clinical features
  • muscle weakness and multiple contractures at birth or in early infancy, limitation of motility in axial and proximal joints, hyperextensibility in distal joints
    • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name collagen type 6 alpha 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown within the triple helical and C-terminal domains
    Remark(s)
  • R876S mutation (C2 subdomain) prevented the chain from assembling into triple-helical collagen VI molecules, and collagen VI secreted by the R876S fibroblasts was solely composed of a faster migrating chain corresponding to the C2a splice variant with an alternative C2 subdomain (C2a splice variant may functionally compensate for the loss of the normal COL6A2 chain when mutations occur in the C2 subdomain ) (Zhang 2010)